EGR1 c.53A>G ;(p.D18G)

Variant ID: 5-137801503-A-G

NM_001964.2(EGR1):c.53A>G;(p.D18G)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Chromosome-level assembly of the Phytophthora agathidicida genome reveals adaptation in effector gene families.

Frontiers In Microbiology
Cox, Murray P MP; Guo, Yanan Y; Winter, David J DJ; Sen, Diya D; Cauldron, Nicholas C NC; Shiller, Jason J; Bradley, Ellie L EL; Ganley, Austen R AR; Gerth, Monica L ML; Lacey, Randy F RF; McDougal, Rebecca L RL; Panda, Preeti P; Williams, Nari M NM; Grunwald, Niklaus J NJ; Mesarich, Carl H CH; Bradshaw, Rosie E RE
Publication Date: 2022

Variant appearance in text: 225: D18G
PubMed Link: 36406440
Variant Present in the following documents:
  • Main text
  • fmicb-13-1038444.pdf
View BVdb publication page



The genetic heterogeneity and drug resistance mechanisms of relapsed refractory multiple myeloma.

Nature Communications
Vo, Josh N JN; Wu, Yi-Mi YM; Mishler, Jeanmarie J; Hall, Sarah S; Mannan, Rahul R; Wang, Lisha L; Ning, Yu Y; Zhou, Jin J; Hopkins, Alexander C AC; Estill, James C JC; Chan, Wallace K B WKB; Yesil, Jennifer J; Cao, Xuhong X; Rao, Arvind A; Tsodikov, Alexander A; Talpaz, Moshe M; Cole, Craig E CE; Ye, Jing C JC; , ; Bergsagel, P Leif PL; Auclair, Daniel D; Cho, Hearn Jay HJ; Robinson, Dan R DR; Chinnaiyan, Arul M AM
Publication Date: 2022-06-29

Variant appearance in text: EGR1: 53A>G; Asp18Gly
PubMed Link: 35768438
Variant Present in the following documents:
  • 41467_2022_31430_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Mycobacterium leprae diversity and population dynamics in medieval Europe from novel ancient genomes.

Bmc Biology
Pfrengle, Saskia S; Neukamm, Judith J; Guellil, Meriam M; Keller, Marcel M; Molak, Martyna M; Avanzi, Charlotte C; Kushniarevich, Alena A; Montes, Núria N; Neumann, Gunnar U GU; Reiter, Ella E; Tukhbatova, Rezeda I RI; Berezina, Nataliya Y NY; Buzhilova, Alexandra P AP; Korobov, Dmitry S DS; Suppersberger Hamre, Stian S; Matos, Vitor M J VMJ; Ferreira, Maria T MT; González-Garrido, Laura L; Wasterlain, Sofia N SN; Lopes, Célia C; Santos, Ana Luisa AL; Antunes-Ferreira, Nathalie N; Duarte, Vitória V; Silva, Ana Maria AM; Melo, Linda L; Sarkic, Natasa N; Saag, Lehti L; Tambets, Kristiina K; Busso, Philippe P; Cole, Stewart T ST; Avlasovich, Alexei A; Roberts, Charlotte A CA; Sheridan, Alison A; Cessford, Craig C; Robb, John J; Krause, Johannes J; Scheib, Christiana L CL; Inskip, Sarah A SA; Schuenemann, Verena J VJ
Publication Date: 2021-10-05

Variant appearance in text: 225: 53A>G
PubMed Link: 34610848
Variant Present in the following documents:
  • 12915_2021_1120_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: 225: 53A>G
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page



North-Western Himalayan Common Beans: Population Structure and Mapping of Quantitative Anthracnose Resistance Through Genome Wide Association Study.

Frontiers In Plant Science
Banoo, Aqleema A; Nabi, Asha A; Rasool, Rovidha S RS; Mahiya-Farooq, ; Shah, Mehraj D MD; Ahmad, Mushtaq M; Sofi, Parvaze A PA; Aasiya-Nabi, ; Itoo, Hamidullah H; Sharma, P N PN; Padder, Bilal A BA
Publication Date: 2020

Variant appearance in text: 225: 53A>G
PubMed Link: 33123180
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



A research-based gene panel to investigate breast, ovarian and prostate cancer genetic risk.

Plos One
Bishop, Madison R MR; Huskey, Anna L W ALW; Hetzel, John J; Merner, Nancy D ND
Publication Date: 2019

Variant appearance in text: 225: 53A>G
PubMed Link: 31415627
Variant Present in the following documents:
  • Main text
View BVdb publication page



Synthetic modeling reveals HOXB genes are critical for the initiation and maintenance of human leukemia.

Nature Communications
Kusakabe, Manabu M; Sun, Ann Chong AC; Tyshchenko, Kateryna K; Wong, Rachel R; Nanda, Aastha A; Shanna, Claire C; Gusscott, Samuel S; Chavez, Elizabeth A EA; Lorzadeh, Alireza A; Zhu, Alice A; Hill, Ainsleigh A; Hung, Stacy S; Brown, Scott S; Babaian, Artem A; Wang, Xuehai X; Holt, Robert A RA; Steidl, Christian C; Karsan, Aly A; Humphries, R Keith RK; Eaves, Connie J CJ; Hirst, Martin M; Weng, Andrew P AP
Publication Date: 2019-07-02

Variant appearance in text: 225: 53A>G
PubMed Link: 31266935
Variant Present in the following documents:
  • 41467_2019_10510_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Analysis of the genomic landscape of multiple myeloma highlights novel prognostic markers and disease subgroups.

Leukemia
Bolli, Niccolo N; Biancon, Giulia G; Moarii, Matahi M; Gimondi, Silvia S; Li, Yilong Y; de Philippis, Chiara C; Maura, Francesco F; Sathiaseelan, Vijitha V; Tai, Yu-Tzu YT; Mudie, Laura L; O'Meara, Sarah S; Raine, Keiran K; Teague, Jon W JW; Butler, Adam P AP; Carniti, Cristiana C; Gerstung, Moritz M; Bagratuni, Tina T; Kastritis, Efstathios E; Dimopoulos, Meletios M; Corradini, Paolo P; Anderson, Kenneth C KC; Moreau, Philippe P; Minvielle, Stephane S; Campbell, Peter J PJ; Papaemmanuil, Elli E; Avet-Loiseau, Herve H; Munshi, Nikhil C NC
Publication Date: 2018-12

Variant appearance in text: EGR1: D18G
PubMed Link: 29789651
Variant Present in the following documents:
  • 41375_2018_37_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Integrated genomic and metabolomic profiling of ISC1, an emerging Leishmania donovani population in the Indian subcontinent.

Infection, Genetics And Evolution : Journal Of Molecular Epidemiology And Evolutionary Genetics In Infectious Diseases
Cuypers, Bart B; Berg, Maya M; Imamura, Hideo H; Dumetz, Franck F; De Muylder, Géraldine G; Domagalska, Malgorzata A MA; Rijal, Suman S; Bhattarai, Narayan Raj NR; Maes, Ilse I; Sanders, Mandy M; Cotton, James A JA; Meysman, Pieter P; Laukens, Kris K; Dujardin, Jean-Claude JC
Publication Date: 2018-08

Variant appearance in text: 225: 53A>G
PubMed Link: 29679745
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics
Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ
Publication Date: 2017-02-15

Variant appearance in text: 225: 53A>G
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: EGR1: 53A>G; D18G
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



THAOS: gastrointestinal manifestations of transthyretin amyloidosis - common complications of a rare disease.

Orphanet Journal Of Rare Diseases
Wixner, Jonas J; Mundayat, Rajiv R; Karayal, Onur N ON; Anan, Intissar I; Karling, Pontus P; Suhr, Ole B OB; ,
Publication Date: 2014-04-27

Variant appearance in text: 225: Asp18Gly
PubMed Link: 24767411
Variant Present in the following documents:
  • 1750-1172-9-61.pdf
View BVdb publication page



Heterogeneity of genomic evolution and mutational profiles in multiple myeloma.

Nature Communications
Bolli, Niccolo N; Avet-Loiseau, Hervé H; Wedge, David C DC; Van Loo, Peter P; Alexandrov, Ludmil B LB; Martincorena, Inigo I; Dawson, Kevin J KJ; Iorio, Francesco F; Nik-Zainal, Serena S; Bignell, Graham R GR; Hinton, Jonathan W JW; Li, Yilong Y; Tubio, Jose M C JM; McLaren, Stuart S; O' Meara, Sarah S; Butler, Adam P AP; Teague, Jon W JW; Mudie, Laura L; Anderson, Elizabeth E; Rashid, Naim N; Tai, Yu-Tzu YT; Shammas, Masood A MA; Sperling, Adam S AS; Fulciniti, Mariateresa M; Richardson, Paul G PG; Parmigiani, Giovanni G; Magrangeas, Florence F; Minvielle, Stephane S; Moreau, Philippe P; Attal, Michel M; Facon, Thierry T; Futreal, P Andrew PA; Anderson, Kenneth C KC; Campbell, Peter J PJ; Munshi, Nikhil C NC
Publication Date: 2014

Variant appearance in text: EGR1: 53A>G; D18G
PubMed Link: 24429703
Variant Present in the following documents:
  • ncomms3997-s2.xlsx, sheet 1
View BVdb publication page



Transthyretin and the brain re-visited: is neuronal synthesis of transthyretin protective in Alzheimer's disease?

Molecular Neurodegeneration
Li, Xinyi X; Buxbaum, Joel N JN
Publication Date: 2011-11-23

Variant appearance in text: 225: D18G
PubMed Link: 22112803
Variant Present in the following documents:
  • Main text
View BVdb publication page



Protein aggregation and protein instability govern familial amyotrophic lateral sclerosis patient survival.

Plos Biology
Wang, Qi Q; Johnson, Joshua L JL; Agar, Nathalie Y R NY; Agar, Jeffrey N JN
Publication Date: 2008-07-29

Variant appearance in text: 225: D18G
PubMed Link: 18666828
Variant Present in the following documents:
  • pbio.0060170.pdf
View BVdb publication page